Canonical Allele Identifier: CA526666193

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1471453969
• gnomAD v2: 1-154544171-C-CTA
• gnomAD v4: 1-154571695-C-CTA
• MyVariant Identifiers: chr1:g.154544171_154544172insTA (hg19) ; chr1:g.154571695_154571696insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571695_154571696insTA , CM000663.2:g.154571695_154571696insTA	GRCh38
NC_000001.10:g.154544171_154544172insTA , CM000663.1:g.154544171_154544172insTA	GRCh37
NC_000001.9:g.152810795_152810796insTA	NCBI36
NG_008027.1:g.8915_8916insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.872_873insTA MANE Select	ENSP00000357461.3:p.Leu292ThrfsTer?
ENST00000636034.1:c.872_873insTA	ENSP00000489703.1:p.Leu292ThrfsTer?
ENST00000637900.1:c.878_879insTA	ENSP00000490474.1:p.Leu294ThrfsTer?
ENST00000368476.3:c.872_873insTA	ENSP00000357461.3:p.Leu292ThrfsTer?
NM_000748.2:c.872_873insTA	NP_000739.1:p.Leu292ThrfsTer?
XM_017000180.2:c.362_363insTA	XP_016855669.1:p.Leu122ThrfsTer?
XR_001736952.2:n.1124_1125insTA
NM_000748.3:c.872_873insTA MANE Select	NP_000739.1:p.Leu292ThrfsTer?